A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18068630



Internal ID20635670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14512046..14512683hg38UCSC Ensembl
chr21:15884367..15885004hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38638
hg19638
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6543605
Supporting Variants
Samples
Known GenesSAMSN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18068630
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00016


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